Enteric neuropathies articles from across Nature Portfolio

Neurointestinal diseases cause significant morbidity and effective treatments are lacking. Here, authors perform autologous cell transplantation of enteric neural stem cells in a mouse model of colonic aganglionosis and report restoration of colonic contractile activity.

Hirschsprung disease (HSCR) is a rare congenital disorder characterized by absence of ganglion cells in the bowel, leading to constipation, abdominal distension and intestinal obstruction. This Primer summarizes the epidemiology, pathophysiology, diagnosis and management of HSCR, and discusses quality of life of patients as well as novel avenues for research.

Hirschsprung disease is caused by defects in enteric neural crest cell. Here, using induced pluripotent stem cell-based models of Hirschsprung and single-cell transcriptomic analysis the authors define various factors associated with Hirschsprung pathogenesis.